title: Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
abstract: The Human Variome Project (HVP) has established a pilot program with the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) to compile all inherited variation affecting colon cancer susceptibility genes. An HVP-InSiGHT Workshop was held on May 10, 2010, prior to the HVP Integration and Implementation Meeting at UNESCO in Paris, to review the progress of this pilot program. A wide range of topics were covered, including issues relating to genotype-phenotype data submission to the InSiGHT Colon Cancer Gene Variant Databases (chromium.liacs.nl/LOVD2/colon_cancer/home.php). The meeting also canvassed the recent exciting developments in models to evaluate the pathogenicity of unclassified variants using in silico data, tumor pathology information, and functional assays, and made further plans for the future progress and sustainability of the pilot program.
authors.affiliation: Cancer Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia. m.corish@garvan.org.au
authors.forename: Maija R J
authors.initials: MR
authors.lastname: Kohonen-Corish
authors.forename: Finlay
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authors.lastname: Macrae
authors.forename: Maurizio
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authors.lastname: Genuardi
authors.forename: Stefan
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authors.lastname: Aretz
authors.forename: Bharati
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authors.lastname: Bapat
authors.forename: Inge T
authors.initials: IT
authors.lastname: Bernstein
authors.forename: John
authors.initials: J
authors.lastname: Burn
authors.forename: Richard G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: Thierry
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authors.lastname: Frebourg
authors.forename: Marc S
authors.initials: MS
authors.lastname: Greenblatt
authors.forename: Robert
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authors.lastname: Hofstra
authors.forename: Elke
authors.initials: E
authors.lastname: Holinski-Feder
authors.forename: Ilkka
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authors.lastname: Lappalainen
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
authors.forename: Donna
authors.initials: D
authors.lastname: Maglott
authors.forename: Pål
authors.initials: P
authors.lastname: Møller
authors.forename: Hans
authors.initials: H
authors.lastname: Morreau
authors.forename: Gabriela
authors.initials: G
authors.lastname: Möslein
authors.forename: Rolf
authors.initials: R
authors.lastname: Sijmons
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Sean
authors.initials: S
authors.lastname: Tavtigian
authors.forename: Carli M J
authors.initials: CM
authors.lastname: Tops
authors.forename: Thomas K
authors.initials: TK
authors.lastname: Weber
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authors.lastname: de Wind
authors.forename: Michael O
authors.initials: MO
authors.lastname: Woods
mesh_terms: D003110:Colonic Neoplasms / Q000235:genetics*; D030541:Databases, Genetic; D052138:Genes, Neoplasm / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D010297:Paris; D014480:United Nations